Search Results - "Pretto, Dalyir"

High MMP-9 activity levels in fragile X syndrome are lowered by minocycline by Dziembowska, Magdalena, Pretto, Dalyir I., Janusz, Aleksandra, Kaczmarek, Leszek, Leigh, Mary Jacena, Gabriel, Nielsen, Durbin-Johnson, Blythe, Hagerman, Randi J., Tassone, Flora

“…Fragile X syndrome (FXS) is a neurodevelopmental disorder characterized by lack of the FMR1 protein, FMRP, a translational repressor. Its absence leads to…”
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CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles by Pretto, Dalyir I, Mendoza-Morales, Guadalupe, Lo, Joyce, Cao, Ru, Hadd, Andrew, Latham, Gary J, Durbin-Johnson, Blythe, Hagerman, Randi, Tassone, Flora

“…Greater than 200 CGG repeats in the 5'UTR of the FMR1 gene lead to epigenetic silencing and lack of the FMR1 protein, causing fragile X Syndrome. Individual…”
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Reduced excitatory amino acid transporter 1 and metabotropic glutamate receptor 5 expression in the cerebellum of fragile X mental retardation gene 1 premutation carriers with fragile X-associated tremor/ataxia syndrome by Pretto, Dalyir I, Kumar, Madhur, Cao, Zhengyu, Cunningham, Christopher L, Durbin-Johnson, Blythe, Qi, Lihong, Berman, Robert, Noctor, Stephen C, Hagerman, Randi J, Pessah, Isaac N, Tassone, Flora

“…Abstract A premutation (PM) expansion (55-200 CGG) in the fragile X mental retardation gene 1 causes elevated messenger RNA and reduced fragile X mental…”
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CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size by Ludwig, Anna Lisa, Espinal, Glenda M, Pretto, Dalyir I, Jamal, Amanda L, Arque, Gloria, Tassone, Flora, Berman, Robert F, Hagerman, Paul J

“…Large expansions of a CGG-repeat element (>200 repeats; full mutation) in the fragile X mental retardation 1 (FMR1) gene cause fragile X syndrome (FXS), the…”
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The sinoatrial node extracellular matrix promotes pacemaker phenotype and protects automaticity in engineered heart tissues from cyclic strain by Sun, Yao-Hui, Kao, Hillary K.J., Thai, Phung N., Smithers, Regan, Chang, Che-Wei, Pretto, Dalyir, Yechikov, Sergey, Oppenheimer, Sarah, Bedolla, Amanda, Chalker, Brooke A., Ghobashy, Rana, Nolta, Jan A., Chan, James W., Chiamvimonvat, Nipavan, Lieu, Deborah K.

“…The composite material-like extracellular matrix (ECM) in the sinoatrial node (SAN) supports the native pacemaking cardiomyocytes (PCMs). To test the roles of…”
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Enhanced asynchronous Ca(2+) oscillations associated with impaired glutamate transport in cortical astrocytes expressing Fmr1 gene premutation expansion by Cao, Zhengyu, Hulsizer, Susan, Cui, Yanjun, Pretto, Dalyir L, Kim, Kyung Ho, Hagerman, Paul J, Tassone, Flora, Pessah, Isaac N

“…FMR1 CGG expansion repeats in the premutation range have not been linked to astrocyte pathophysiology. Premutation cortical astrocytes display decreased Glu…”
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NODAL inhibition promotes differentiation of pacemaker-like cardiomyocytes from human induced pluripotent stem cells by Yechikov, Sergey, Kao, Hillary K.J., Chang, Che-Wei, Pretto, Dalyir, Zhang, Xiao-Dong, Sun, Yao-Hui, Smithers, Regan, Sirish, Padmini, Nolta, Jan A., Chan, James W., Chiamvimonvat, Nipavan, Lieu, Deborah K.

“…•Differentiation yield of pacemaking cardiomyocytes from hiPSCs is known to be low.•hiPSC-cardiac mesoderm treated with SB431542 downregulated PITX2c in…”
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Molecular biomarkers predictive of sertraline treatment response in young children with fragile X syndrome by AlOlaby, Reem Rafik, Sweha, Stefan R, Silva, Marisol, Durbin-Johnson, Blythe, Yrigollen, Carolyn M, Pretto, Dalyir, Hagerman, Randi J, Tassone, Flora

“…Abstract Objectives Several neurotransmitters involved in brain development are altered in fragile X syndrome (FXS), the most common monogenic cause of autism…”
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Clinical and molecular implications of mosaicism in FMR1 full mutations by Pretto, Dalyir, Yrigollen, Carolyn M, Tang, Hiu-Tung, Williamson, John, Espinal, Glenda, Iwahashi, Chris K, Durbin-Johnson, Blythe, Hagerman, Randi J, Hagerman, Paul J, Tassone, Flora

“…Expansions of more than 200 CGG repeats (full mutation) in the FMR1 gene give rise to fragile X syndrome (FXS) through a process that generally involves…”
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Differential increases of specific FMR1 mRNA isoforms in premutation carriers by Pretto, Dalyir I, Eid, John S, Yrigollen, Carolyn M, Tang, Hiu-Tung, Loomis, Erick W, Raske, Chris, Durbin-Johnson, Blythe, Hagerman, Paul J, Tassone, Flora

“…Over 40% of male and ∼16% of female carriers of a premutation FMR1 allele (55-200 CGG repeats) will develop fragile X-associated tremor/ataxia syndrome, an…”
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Structural Dynamics and Single-Stranded DNA Binding Activity of the Three N-Terminal Domains of the Large Subunit of Replication Protein A from Small Angle X-ray Scattering by Pretto, Dalyir I, Tsutakawa, Susan, Brosey, Chris A, Castillo, Amalchi, Chagot, Marie-Eve, Smith, Jarrod A, Tainer, John A, Chazin, Walter J

“…Replication protein A (RPA) is the primary eukaryotic single-stranded DNA (ssDNA) binding protein utilized in diverse DNA transactions in the cell. RPA is a…”
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NMR Analysis of the Architecture and Functional Remodeling of a Modular Multidomain Protein, RPA by Brosey, Chris A, Chagot, Marie-Eve, Ehrhardt, Mark, Pretto, Dalyir I, Weiner, Brian E, Chazin, Walter J

“…Modular proteins with multiple domains tethered by flexible linkers have variable global architectures. Using the eukaryotic ssDNA binding protein, Replication…”
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Intranuclear inclusions in a fragile X mosaic male by Pretto, Dalyir I, Hunsaker, Michael R, Cunningham, Christopher L, Greco, Claudia M, Hagerman, Randi J, Noctor, Stephen C, Hall, Deborah A, Hagerman, Paul J, Tassone, Flora

“…Lack of the fragile X mental retardation protein leads to Fragile X syndrome (FXS) while increased levels of FMR1 mRNA, as those observed in premutation…”
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Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome by Berman, Robert F, Buijsen, Ronald Am, Usdin, Karen, Pintado, Elizabeth, Kooy, Frank, Pretto, Dalyir, Pessah, Isaac N, Nelson, David L, Zalewski, Zachary, Charlet-Bergeurand, Nicholas, Willemsen, Rob, Hukema, Renate K

“…Carriers of the fragile X premutation (FPM) have CGG trinucleotide repeat expansions of between 55 and 200 in the 5'-UTR of FMR1, compared to a CGG repeat…”
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Replication Protein A Stimulates the Werner Syndrome Protein Branch Migration Activity by Sowd, Gregory, Wang, Hong, Pretto, Dalyir, Chazin, Walter J., Opresko, Patricia L.

“…Loss of the RecQ DNA helicase WRN protein causes Werner syndrome, in which patients exhibit features of premature aging and increased cancer. WRN deficiency…”
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Screening newborn blood spots for 22q11.2 deletion syndrome using multiplex droplet digital PCR by Pretto, Dalyir, Maar, Dianna, Yrigollen, Carolyn M, Regan, Jack, Tassone, Flora

“…The diagnosis of 22q11 deletion syndrome (22q11DS) is often delayed or missed due to the wide spectrum of clinical involvement ranging from mild to severe,…”
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Enhanced Asynchronous Ca2+ Oscillations Associated with Impaired Glutamate Transport in Cortical Astrocytes Expressing Fmr1 Gene Premutation Expansion by Cao, Zhengyu, Hulsizer, Susan, Cui, Yanjun, Pretto, Dalyir L., Kim, Kyung Ho, Hagerman, Paul J., Tassone, Flora, Pessah, Isaac N.

“…Premutation CGG repeat expansions (55–200 CGG repeats; preCGG) within the fragile X mental retardation 1 (FMR1) gene can cause fragile X-associated…”
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High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome by Basuta, Kirin, Schneider, Andrea, Gane, Louise, Polussa, Jonathan, Woodruff, Bryan, Pretto, Dalyir, Hagerman, Randi, Tassone, Flora

“…Fragile X syndrome (FXS) affects individuals with more than 200 CGG repeats (full mutation) in the fragile X mental retardation 1 (FMR1) gene. Those born with…”
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Human induced pluripotent stem cell line with genetically encoded fluorescent voltage indicator generated via CRISPR for action potential assessment post‐cardiogenesis by Sun, Yao‐Hui, Kao, Hillary K.J., Chang, Che‐Wei, Merleev, Alexander, Overton, James L., Pretto, Dalyir, Yechikov, Sergey, Maverakis, Emanual, Chiamvimonvat, Nipavan, Chan, James W., Lieu, Deborah K.

“…Genetically encoded fluorescent voltage indicators, such as ArcLight, have been used to report action potentials (APs) in human induced pluripotent stem…”
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Reduced EAAT1 and mGluR5 expression in the cerebellum of FMR1 premutation carriers with FXTAS by Pretto, Dalyir I., Kumar, Madhur, Cao, Zhengyu, Cunningham, Christopher L., Durbin-Johnson, Blythe, Qi, Lihong, Berman, Robert, Noctor, Stephen C., Hagerman, Randi J., Pessah, Isaac N., Tassone, Flora

“…A premutation (PM) expansion (55–200 CGG) in the fragile X mental retardation gene 1 ( FMR1 ) causes elevated mRNA and reduced FMR1 protein (FMRP). Young PM…”
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